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Literature DB >> 33560389

A patient with a germline GATA2 mutation and primary myelofibrosis.

Cyrill V Rütsche¹, Eugenia Haralambieva², Veronika Lysenko¹, Stefan Balabanov¹, Alexandre P A Theocharides¹.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2021 PMID： 33560389 PMCID： PMC7876883 DOI： 10.1182/bloodadvances.2020003401

Source DB: PubMed Journal: Blood Adv ISSN： 2473-9529

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33 in total

1. Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.

Authors: Zhijie Wu; Shouguo Gao; Carrie Diamond; Sachiko Kajigaya; Jinguo Chen; Rongye Shi; Cindy Palmer; Amy P Hsu; Katherine R Calvo; Dennis D Hickstein; Steven M Holland; Neal S Young
Journal: Blood Adv Date: 2020-06-23

2. Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embryonic stem cells.

Authors: M J Weiss; G Keller; S H Orkin
Journal: Genes Dev Date: 1994-05-15 Impact factor: 11.361

3. GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

Authors: Karthik A Ganapathi; Danielle M Townsley; Amy P Hsu; Diane C Arthur; Christa S Zerbe; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Sergio D Rosenzweig; Raul C Braylan; Neal S Young; Steven M Holland; Katherine R Calvo
Journal: Blood Date: 2014-10-30 Impact factor: 22.113

4. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Authors: Pia Ostergaard; Michael A Simpson; Fiona C Connell; Colin G Steward; Glen Brice; Wesley J Woollard; Dimitra Dafou; Tatjana Kilo; Sarah Smithson; Peter Lunt; Victoria A Murday; Shirley Hodgson; Russell Keenan; Daniela T Pilz; Ines Martinez-Corral; Taija Makinen; Peter S Mortimer; Steve Jeffery; Richard C Trembath; Sahar Mansour
Journal: Nat Genet Date: 2011-09-04 Impact factor: 38.330

5. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1.

Authors: L Pevny; M C Simon; E Robertson; W H Klein; S F Tsai; V D'Agati; S H Orkin; F Costantini
Journal: Nature Date: 1991-01-17 Impact factor: 49.962

6. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Authors: Rachel Emma Dickinson; Helen Griffin; Venetia Bigley; Louise N Reynard; Rafiqul Hussain; Muzlifah Haniffa; Jeremy H Lakey; Thahira Rahman; Xiao-Nong Wang; Naomi McGovern; Sarah Pagan; Sharon Cookson; David McDonald; Ignatius Chua; Jonathan Wallis; Andrew Cant; Michael Wright; Bernard Keavney; Patrick F Chinnery; John Loughlin; Sophie Hambleton; Mauro Santibanez-Koref; Matthew Collin
Journal: Blood Date: 2011-07-15 Impact factor: 22.113

7. The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.

Authors: Amy V Jones; Peter J Campbell; Philip A Beer; Susanne Schnittger; Alessandro M Vannucchi; Katerina Zoi; Melanie J Percy; Mary Frances McMullin; Linda M Scott; William Tapper; Richard T Silver; David Oscier; Claire N Harrison; Harald Grallert; Aliaksei Kisialiou; Paul Strike; Andrew J Chase; Anthony R Green; Nicholas C P Cross
Journal: Blood Date: 2010-03-19 Impact factor: 22.113

8. Comparison of the Mutational Profiles of Primary Myelofibrosis, Polycythemia Vera, and Essential Thrombocytosis.

Authors: Jinming Song; Mohammad Hussaini; Hailing Zhang; Haipeng Shao; Dahui Qin; Xiaohui Zhang; Zhenjun Ma; Syeda Mahrukh Hussnain Naqvi; Ling Zhang; Lynn C Moscinski
Journal: Am J Clin Pathol Date: 2017-05-01 Impact factor: 2.493

9. Long-term treatment with ruxolitinib for patients with myelofibrosis: 5-year update from the randomized, double-blind, placebo-controlled, phase 3 COMFORT-I trial.

Authors: Srdan Verstovsek; Ruben A Mesa; Jason Gotlib; Vikas Gupta; John F DiPersio; John V Catalano; Michael W N Deininger; Carole B Miller; Richard T Silver; Moshe Talpaz; Elliott F Winton; Jimmie H Harvey; Murat O Arcasoy; Elizabeth O Hexner; Roger M Lyons; Ronald Paquette; Azra Raza; Mark Jones; Deanna Kornacki; Kang Sun; Hagop Kantarjian
Journal: J Hematol Oncol Date: 2017-02-22 Impact factor: 17.388

10. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.

Authors: Erik L Bao; Satish K Nandakumar; Xiaotian Liao; Alexander G Bick; Juha Karjalainen; Marcin Tabaka; Olga I Gan; Aki S Havulinna; Tuomo T J Kiiskinen; Caleb A Lareau; Aitzkoa L de Lapuente Portilla; Bo Li; Connor Emdin; Veryan Codd; Christopher P Nelson; Christopher J Walker; Claire Churchhouse; Albert de la Chapelle; Daryl E Klein; Björn Nilsson; Peter W F Wilson; Kelly Cho; Saiju Pyarajan; J Michael Gaziano; Nilesh J Samani; Aviv Regev; Aarno Palotie; Benjamin M Neale; John E Dick; Pradeep Natarajan; Christopher J O'Donnell; Mark J Daly; Michael Milyavsky; Sekar Kathiresan; Vijay G Sankaran
Journal: Nature Date: 2020-10-14 Impact factor: 69.504

2 in total

Review 1. Second Cancer Onset in Myeloproliferative Neoplasms: What, When, Why?

Authors: Cosimo Cumbo; Luisa Anelli; Antonella Zagaria; Nicoletta Coccaro; Francesco Tarantini; Giorgina Specchia; Pellegrino Musto; Francesco Albano
Journal: Int J Mol Sci Date: 2022-03-15 Impact factor: 5.923

2. GATA2 deficiency syndrome: A decade of discovery.

Authors: Claire C Homan; Parvathy Venugopal; Peer Arts; Nur H Shahrin; Simone Feurstein; Lesley Rawlings; David M Lawrence; James Andrews; Sarah L King-Smith; Natasha L Harvey; Anna L Brown; Hamish S Scott; Christopher N Hahn
Journal: Hum Mutat Date: 2021-08-31 Impact factor: 4.700

2 in total